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TBL2

Synonyms
WBSCR13, WS-betaTRP
External resources
Summary
This gene encodes a member of the beta-transducin protein family. Most proteins of the beta-transducin family are involved in regulatory functions. This protein is possibly involved in some intracellular signaling pathway. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
2,303
Likely benign
763
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on TBL2 gene.

Phenotype class
Patients in 3billion (%)

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